Incidental Mutation 'R1471:Srrm2'
ID 164935
Institutional Source Beutler Lab
Gene Symbol Srrm2
Ensembl Gene ENSMUSG00000039218
Gene Name serine/arginine repetitive matrix 2
Synonyms 5033413A03Rik, SRm300
MMRRC Submission 039524-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R1471 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24009506-24043715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24039770 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 2234 (V2234E)
Ref Sequence ENSEMBL: ENSMUSP00000139842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069579] [ENSMUST00000088621] [ENSMUST00000190686]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069579
SMART Domains Protein: ENSMUSP00000066210
Gene: ENSMUSG00000055839

DomainStartEndE-ValueType
UBQ 3 80 5.1e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000088621
AA Change: V2138E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: V2138E

DomainStartEndE-ValueType
low complexity region 82 157 N/A INTRINSIC
low complexity region 161 188 N/A INTRINSIC
low complexity region 223 238 N/A INTRINSIC
internal_repeat_4 248 305 2.93e-5 PROSPERO
internal_repeat_5 259 388 2.93e-5 PROSPERO
low complexity region 407 423 N/A INTRINSIC
CTD 464 584 5.25e-14 SMART
low complexity region 652 682 N/A INTRINSIC
low complexity region 689 721 N/A INTRINSIC
internal_repeat_6 732 778 4.88e-5 PROSPERO
low complexity region 779 795 N/A INTRINSIC
low complexity region 802 824 N/A INTRINSIC
low complexity region 839 853 N/A INTRINSIC
internal_repeat_2 859 1124 6.34e-6 PROSPERO
internal_repeat_1 1055 1183 3.81e-6 PROSPERO
internal_repeat_4 1113 1166 2.93e-5 PROSPERO
internal_repeat_6 1169 1213 4.88e-5 PROSPERO
low complexity region 1236 1244 N/A INTRINSIC
low complexity region 1275 1286 N/A INTRINSIC
low complexity region 1290 1312 N/A INTRINSIC
internal_repeat_2 1313 1485 6.34e-6 PROSPERO
low complexity region 1493 1525 N/A INTRINSIC
low complexity region 1545 1555 N/A INTRINSIC
low complexity region 1559 1720 N/A INTRINSIC
low complexity region 1734 1919 N/A INTRINSIC
low complexity region 1926 1951 N/A INTRINSIC
low complexity region 1966 1980 N/A INTRINSIC
low complexity region 2079 2105 N/A INTRINSIC
internal_repeat_3 2107 2118 1.06e-5 PROSPERO
internal_repeat_3 2135 2146 1.06e-5 PROSPERO
low complexity region 2153 2172 N/A INTRINSIC
internal_repeat_5 2182 2320 2.93e-5 PROSPERO
internal_repeat_1 2224 2368 3.81e-6 PROSPERO
low complexity region 2390 2425 N/A INTRINSIC
low complexity region 2518 2539 N/A INTRINSIC
low complexity region 2541 2550 N/A INTRINSIC
low complexity region 2552 2571 N/A INTRINSIC
low complexity region 2594 2607 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175240
Predicted Effect probably benign
Transcript: ENSMUST00000186259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189977
Predicted Effect probably damaging
Transcript: ENSMUST00000190686
AA Change: V2234E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: V2234E

DomainStartEndE-ValueType
Pfam:cwf21 58 102 1.5e-13 PFAM
low complexity region 178 253 N/A INTRINSIC
low complexity region 257 284 N/A INTRINSIC
low complexity region 319 334 N/A INTRINSIC
internal_repeat_4 344 401 3.07e-5 PROSPERO
internal_repeat_5 355 484 3.07e-5 PROSPERO
low complexity region 503 519 N/A INTRINSIC
CTD 560 680 5.25e-14 SMART
low complexity region 748 778 N/A INTRINSIC
low complexity region 785 817 N/A INTRINSIC
internal_repeat_6 828 874 5.11e-5 PROSPERO
low complexity region 875 891 N/A INTRINSIC
low complexity region 898 920 N/A INTRINSIC
low complexity region 935 949 N/A INTRINSIC
internal_repeat_2 955 1220 6.62e-6 PROSPERO
internal_repeat_1 1151 1279 3.97e-6 PROSPERO
internal_repeat_4 1209 1262 3.07e-5 PROSPERO
internal_repeat_6 1265 1309 5.11e-5 PROSPERO
low complexity region 1332 1340 N/A INTRINSIC
low complexity region 1371 1382 N/A INTRINSIC
low complexity region 1386 1408 N/A INTRINSIC
internal_repeat_2 1409 1581 6.62e-6 PROSPERO
low complexity region 1589 1621 N/A INTRINSIC
low complexity region 1641 1651 N/A INTRINSIC
low complexity region 1655 1816 N/A INTRINSIC
low complexity region 1830 2015 N/A INTRINSIC
low complexity region 2022 2047 N/A INTRINSIC
low complexity region 2062 2076 N/A INTRINSIC
low complexity region 2175 2201 N/A INTRINSIC
internal_repeat_3 2203 2214 1.1e-5 PROSPERO
internal_repeat_3 2231 2242 1.1e-5 PROSPERO
low complexity region 2249 2268 N/A INTRINSIC
internal_repeat_5 2278 2416 3.07e-5 PROSPERO
internal_repeat_1 2320 2464 3.97e-6 PROSPERO
low complexity region 2486 2521 N/A INTRINSIC
low complexity region 2614 2635 N/A INTRINSIC
low complexity region 2637 2646 N/A INTRINSIC
low complexity region 2648 2667 N/A INTRINSIC
low complexity region 2690 2703 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190568
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik C A 13: 61,001,336 (GRCm39) K130N probably damaging Het
Adam6a T A 12: 113,508,013 (GRCm39) S129T probably damaging Het
Adamts10 T A 17: 33,772,112 (GRCm39) F1087I probably damaging Het
Afp T A 5: 90,651,541 (GRCm39) N385K possibly damaging Het
Ahnak T G 19: 8,990,296 (GRCm39) probably benign Het
Akap6 A G 12: 53,188,279 (GRCm39) T1898A probably benign Het
Antxr2 C A 5: 98,123,199 (GRCm39) V283F possibly damaging Het
Asgr1 T C 11: 69,946,919 (GRCm39) V55A possibly damaging Het
Asxl3 A G 18: 22,649,411 (GRCm39) K467E probably damaging Het
Atp5f1a C A 18: 77,868,969 (GRCm39) Q398K probably damaging Het
Atxn2 T A 5: 121,924,437 (GRCm39) D455E probably damaging Het
B4galt6 C T 18: 20,878,410 (GRCm39) A39T possibly damaging Het
C130073F10Rik C T 4: 101,747,535 (GRCm39) E165K probably benign Het
Cabin1 A G 10: 75,530,626 (GRCm39) C1519R probably damaging Het
Casp8ap2 C T 4: 32,639,386 (GRCm39) R147* probably null Het
Ccdc88b A G 19: 6,831,391 (GRCm39) L517P probably benign Het
Cd109 G A 9: 78,561,869 (GRCm39) V220I probably damaging Het
Cd2ap T C 17: 43,131,488 (GRCm39) K369R probably benign Het
Cd300c A G 11: 114,850,614 (GRCm39) V63A probably benign Het
Cnot10 A G 9: 114,420,619 (GRCm39) V741A probably benign Het
Col18a1 G T 10: 76,932,040 (GRCm39) Q350K unknown Het
Crnkl1 T C 2: 145,774,236 (GRCm39) K76E possibly damaging Het
Cryzl2 A G 1: 157,298,291 (GRCm39) K227E probably benign Het
Cts6 G A 13: 61,344,194 (GRCm39) T286I probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Dcaf7 T A 11: 105,937,573 (GRCm39) F65L probably benign Het
Dgke A C 11: 88,946,320 (GRCm39) V160G possibly damaging Het
Dock8 C A 19: 25,178,400 (GRCm39) Q2098K possibly damaging Het
Efhb T A 17: 53,706,140 (GRCm39) D799V possibly damaging Het
Ephb2 T C 4: 136,386,262 (GRCm39) D829G probably benign Het
Exosc1 A T 19: 41,913,157 (GRCm39) S117R probably damaging Het
Fga T C 3: 82,935,925 (GRCm39) S51P probably benign Het
Fmn1 T C 2: 113,523,439 (GRCm39) F1141L possibly damaging Het
Foxm1 C T 6: 128,350,837 (GRCm39) L713F probably damaging Het
Galnt4 A G 10: 98,944,536 (GRCm39) E87G probably benign Het
Gamt T C 10: 80,096,692 (GRCm39) D15G probably benign Het
Gm15557 C A 2: 155,784,174 (GRCm39) D154E possibly damaging Het
Gnptab A G 10: 88,281,625 (GRCm39) I1211V probably benign Het
Greb1 A T 12: 16,761,775 (GRCm39) M535K probably damaging Het
Grm8 C A 6: 27,363,308 (GRCm39) A736S possibly damaging Het
Hspa14 T C 2: 3,492,645 (GRCm39) I373M probably benign Het
Ifi207 T A 1: 173,557,629 (GRCm39) T370S unknown Het
Igf1r A G 7: 67,653,585 (GRCm39) N41S probably damaging Het
Ikzf5 A T 7: 130,993,496 (GRCm39) V224D probably damaging Het
Il10 C A 1: 130,949,110 (GRCm39) Y90* probably null Het
Itga4 A G 2: 79,117,376 (GRCm39) D394G probably benign Het
Kif21a A T 15: 90,840,622 (GRCm39) S1165T probably benign Het
Krtap14 A G 16: 88,622,515 (GRCm39) S155P probably damaging Het
Loxl2 A G 14: 69,930,546 (GRCm39) N770S probably benign Het
Man2b1 A G 8: 85,813,474 (GRCm39) D222G probably damaging Het
Mcub T A 3: 129,709,464 (GRCm39) Y283F probably damaging Het
Meis3 T A 7: 15,911,496 (GRCm39) Y64* probably null Het
Mfsd6 T A 1: 52,748,716 (GRCm39) I50F probably benign Het
Micu2 T C 14: 58,182,854 (GRCm39) T165A probably damaging Het
Mtcl1 T C 17: 66,686,143 (GRCm39) E921G probably damaging Het
Muc5b A T 7: 141,396,971 (GRCm39) N215Y unknown Het
Muc6 A G 7: 141,234,176 (GRCm39) F772L possibly damaging Het
Myt1 A G 2: 181,438,904 (GRCm39) D142G probably benign Het
Nol6 C T 4: 41,120,281 (GRCm39) V479I probably benign Het
Nsun7 A G 5: 66,441,572 (GRCm39) K414E probably benign Het
Nup210l A C 3: 90,077,869 (GRCm39) I914L probably benign Het
Obox3 G A 7: 15,360,875 (GRCm39) P88L probably benign Het
Or10ag57 A G 2: 87,218,862 (GRCm39) Y271C probably damaging Het
Or4f4b T C 2: 111,314,351 (GRCm39) L192P probably damaging Het
Or8h8 C T 2: 86,752,922 (GRCm39) probably null Het
Or8w1 T C 2: 87,466,014 (GRCm39) T26A probably benign Het
Pclo T C 5: 14,730,441 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,545,688 (GRCm39) N745D probably damaging Het
Pdzrn3 T A 6: 101,128,473 (GRCm39) N731I possibly damaging Het
Pkdrej T A 15: 85,701,334 (GRCm39) Q1534L probably benign Het
Pramel28 T C 4: 143,691,523 (GRCm39) N400S probably benign Het
Rell1 T A 5: 64,093,428 (GRCm39) D109V probably damaging Het
Rplp0 C T 5: 115,701,403 (GRCm39) T285I probably damaging Het
Sanbr A T 11: 23,565,222 (GRCm39) M255K probably damaging Het
Sema3g C T 14: 30,950,002 (GRCm39) R728C probably damaging Het
Slc15a2 A G 16: 36,574,153 (GRCm39) Y536H probably damaging Het
Slc26a5 T A 5: 22,021,962 (GRCm39) Y488F probably benign Het
Slc5a4a A T 10: 76,022,362 (GRCm39) S566C probably damaging Het
Spink7 C T 18: 62,729,275 (GRCm39) E21K possibly damaging Het
Src C T 2: 157,299,107 (GRCm39) Q35* probably null Het
Stk36 A T 1: 74,650,314 (GRCm39) Q282L probably benign Het
Tas2r118 T G 6: 23,969,170 (GRCm39) E297A probably damaging Het
Terf1 A G 1: 15,913,194 (GRCm39) Y385C probably damaging Het
Tmc3 T C 7: 83,247,498 (GRCm39) S198P probably damaging Het
Tmprss11b C T 5: 86,808,355 (GRCm39) R407H possibly damaging Het
Tspyl4 G A 10: 34,174,107 (GRCm39) E200K probably damaging Het
Ttc21a T C 9: 119,771,707 (GRCm39) Y169H probably damaging Het
Ugt2b36 C T 5: 87,239,930 (GRCm39) D152N probably damaging Het
Unk T C 11: 115,940,235 (GRCm39) I196T probably benign Het
Uroc1 T G 6: 90,321,153 (GRCm39) V243G probably damaging Het
Usp34 C A 11: 23,438,862 (GRCm39) Q3475K probably benign Het
Vmn2r117 T A 17: 23,697,447 (GRCm39) I82L probably benign Het
Vmn2r44 A T 7: 8,380,882 (GRCm39) V337E probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp362 T C 4: 128,680,993 (GRCm39) T111A probably benign Het
Zfp598 T C 17: 24,899,046 (GRCm39) V615A probably benign Het
Other mutations in Srrm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Srrm2 APN 17 24,031,452 (GRCm39) missense probably benign 0.23
IGL00484:Srrm2 APN 17 24,037,492 (GRCm39) missense probably benign 0.23
IGL01413:Srrm2 APN 17 24,034,999 (GRCm39) unclassified probably benign
IGL02272:Srrm2 APN 17 24,034,756 (GRCm39) unclassified probably benign
IGL02279:Srrm2 APN 17 24,034,306 (GRCm39) unclassified probably benign
IGL02325:Srrm2 APN 17 24,029,453 (GRCm39) unclassified probably benign
IGL02947:Srrm2 APN 17 24,029,720 (GRCm39) missense probably benign 0.23
IGL03002:Srrm2 APN 17 24,034,708 (GRCm39) unclassified probably benign
BB009:Srrm2 UTSW 17 24,037,501 (GRCm39) missense probably benign 0.23
BB019:Srrm2 UTSW 17 24,037,501 (GRCm39) missense probably benign 0.23
R0173:Srrm2 UTSW 17 24,034,103 (GRCm39) unclassified probably benign
R1018:Srrm2 UTSW 17 24,041,514 (GRCm39) missense probably damaging 0.98
R1109:Srrm2 UTSW 17 24,038,591 (GRCm39) unclassified probably benign
R1199:Srrm2 UTSW 17 24,036,725 (GRCm39) unclassified probably benign
R1478:Srrm2 UTSW 17 24,034,876 (GRCm39) missense probably benign 0.23
R1618:Srrm2 UTSW 17 24,037,906 (GRCm39) unclassified probably benign
R1678:Srrm2 UTSW 17 24,037,960 (GRCm39) missense probably benign 0.23
R1853:Srrm2 UTSW 17 24,039,499 (GRCm39) missense probably damaging 1.00
R1968:Srrm2 UTSW 17 24,040,465 (GRCm39) missense probably damaging 1.00
R2094:Srrm2 UTSW 17 24,031,403 (GRCm39) unclassified probably benign
R2102:Srrm2 UTSW 17 24,036,722 (GRCm39) unclassified probably benign
R2156:Srrm2 UTSW 17 24,037,237 (GRCm39) missense probably benign 0.23
R2214:Srrm2 UTSW 17 24,035,719 (GRCm39) unclassified probably benign
R2913:Srrm2 UTSW 17 24,034,658 (GRCm39) unclassified probably benign
R3721:Srrm2 UTSW 17 24,041,549 (GRCm39) small deletion probably benign
R4411:Srrm2 UTSW 17 24,029,442 (GRCm39) unclassified probably benign
R4412:Srrm2 UTSW 17 24,029,442 (GRCm39) unclassified probably benign
R4413:Srrm2 UTSW 17 24,029,442 (GRCm39) unclassified probably benign
R4583:Srrm2 UTSW 17 24,038,593 (GRCm39) unclassified probably benign
R4682:Srrm2 UTSW 17 24,034,666 (GRCm39) missense probably benign 0.23
R4910:Srrm2 UTSW 17 24,034,362 (GRCm39) unclassified probably benign
R4943:Srrm2 UTSW 17 24,041,389 (GRCm39) missense possibly damaging 0.94
R5023:Srrm2 UTSW 17 24,038,291 (GRCm39) unclassified probably benign
R5033:Srrm2 UTSW 17 24,039,592 (GRCm39) missense probably damaging 1.00
R5163:Srrm2 UTSW 17 24,038,524 (GRCm39) unclassified probably benign
R5186:Srrm2 UTSW 17 24,035,561 (GRCm39) missense probably benign 0.23
R5197:Srrm2 UTSW 17 24,036,358 (GRCm39) missense probably benign 0.23
R5366:Srrm2 UTSW 17 24,037,678 (GRCm39) missense probably benign 0.23
R5483:Srrm2 UTSW 17 24,040,246 (GRCm39) missense probably damaging 0.96
R5551:Srrm2 UTSW 17 24,037,450 (GRCm39) unclassified probably benign
R5602:Srrm2 UTSW 17 24,038,311 (GRCm39) unclassified probably benign
R5733:Srrm2 UTSW 17 24,040,360 (GRCm39) missense probably damaging 0.98
R5774:Srrm2 UTSW 17 24,037,249 (GRCm39) unclassified probably benign
R5909:Srrm2 UTSW 17 24,040,291 (GRCm39) missense probably benign 0.27
R5961:Srrm2 UTSW 17 24,039,083 (GRCm39) unclassified probably benign
R6122:Srrm2 UTSW 17 24,039,330 (GRCm39) missense possibly damaging 0.58
R6906:Srrm2 UTSW 17 24,039,337 (GRCm39) missense probably damaging 0.97
R7084:Srrm2 UTSW 17 24,039,290 (GRCm39) missense probably damaging 0.99
R7177:Srrm2 UTSW 17 24,035,747 (GRCm39) missense unknown
R7197:Srrm2 UTSW 17 24,037,198 (GRCm39) missense unknown
R7442:Srrm2 UTSW 17 24,039,091 (GRCm39) missense unknown
R7644:Srrm2 UTSW 17 24,038,294 (GRCm39) missense unknown
R7664:Srrm2 UTSW 17 24,039,955 (GRCm39) missense probably damaging 0.99
R7874:Srrm2 UTSW 17 24,034,652 (GRCm39) missense unknown
R7932:Srrm2 UTSW 17 24,037,501 (GRCm39) missense probably benign 0.23
R7950:Srrm2 UTSW 17 24,027,084 (GRCm39) missense unknown
R7958:Srrm2 UTSW 17 24,040,286 (GRCm39) missense probably benign 0.25
R8081:Srrm2 UTSW 17 24,039,219 (GRCm39) missense probably damaging 1.00
R8118:Srrm2 UTSW 17 24,027,057 (GRCm39) missense unknown
R8174:Srrm2 UTSW 17 24,034,297 (GRCm39) missense unknown
R8191:Srrm2 UTSW 17 24,039,219 (GRCm39) missense probably damaging 1.00
R8334:Srrm2 UTSW 17 24,027,330 (GRCm39) missense unknown
R8523:Srrm2 UTSW 17 24,027,489 (GRCm39) unclassified probably benign
R8728:Srrm2 UTSW 17 24,038,831 (GRCm39) missense unknown
R8912:Srrm2 UTSW 17 24,038,575 (GRCm39) missense probably benign 0.23
R9209:Srrm2 UTSW 17 24,039,880 (GRCm39) missense probably benign 0.05
RF006:Srrm2 UTSW 17 24,031,562 (GRCm39) missense unknown
Z1176:Srrm2 UTSW 17 24,036,157 (GRCm39) missense unknown
Z1177:Srrm2 UTSW 17 24,036,484 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGCTGGCCTTGCTGCAAGAATG -3'
(R):5'- ACAATGCTGGAGCCATCCTGGAAC -3'

Sequencing Primer
(F):5'- TTGCTGCAAGAATGTCCCAG -3'
(R):5'- ATATTCACAGGAGCTGTGCC -3'
Posted On 2014-03-28